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Entry version 163 (16 Oct 2019)
Sequence version 2 (24 Jan 2001)
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Protein

Protein patched homolog 2

Gene

PTCH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-373080 Class B/2 (Secretin family receptors)

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9Y6C5

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y6C5

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.6.6.14 the resistance-nodulation-cell division (rnd) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein patched homolog 2
Short name:
PTC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PTCH2
ORF Names:UNQ560/PRO1121/PRO57079
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9586 PTCH2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603673 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6C5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 57CytoplasmicSequence analysisAdd BLAST57
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei58 – 78HelicalSequence analysisAdd BLAST21
Topological domaini79 – 392ExtracellularSequence analysisAdd BLAST314
Transmembranei393 – 413HelicalSequence analysisAdd BLAST21
Topological domaini414 – 428CytoplasmicSequence analysisAdd BLAST15
Transmembranei429 – 449HelicalSequence analysisAdd BLAST21
Topological domaini450 – 457ExtracellularSequence analysis8
Transmembranei458 – 478HelicalSequence analysisAdd BLAST21
Topological domaini479 – 501CytoplasmicSequence analysisAdd BLAST23
Transmembranei502 – 522HelicalSequence analysisAdd BLAST21
Topological domaini523 – 531ExtracellularSequence analysis9
Transmembranei532 – 552HelicalSequence analysisAdd BLAST21
Topological domaini553 – 686CytoplasmicSequence analysisAdd BLAST134
Transmembranei687 – 707HelicalSequence analysisAdd BLAST21
Topological domaini708 – 963ExtracellularSequence analysisAdd BLAST256
Transmembranei964 – 984HelicalSequence analysisAdd BLAST21
Topological domaini985 – 991CytoplasmicSequence analysis7
Transmembranei992 – 1012HelicalSequence analysisAdd BLAST21
Topological domaini1013ExtracellularSequence analysis1
Transmembranei1014 – 1034HelicalSequence analysisAdd BLAST21
Topological domaini1035 – 1064CytoplasmicSequence analysisAdd BLAST30
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Topological domaini1086 – 1093ExtracellularSequence analysis8
Transmembranei1094 – 1114HelicalSequence analysisAdd BLAST21
Topological domaini1115 – 1203CytoplasmicSequence analysisAdd BLAST89

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Medulloblastoma (MDB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMalignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Related information in OMIM
Basal cell carcinoma (BCC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Related information in OMIM
Basal cell nevus syndrome (BCNS)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081391719R → Q in BCNS; unknown pathological significance; does not inhibit cell growth when overexpressed in vitro. 1 PublicationCorresponds to variant dbSNP:rs121434397EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8643

MalaCards human disease database

More...
MalaCardsi
PTCH2
MIMi109400 phenotype
155255 phenotype
605462 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000117425

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
377 Gorlin syndrome
141276 Tessier number 7 facial cleft

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33938

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y6C5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PTCH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12643356

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002059701 – 1203Protein patched homolog 2Add BLAST1203

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi370N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi812N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y6C5

PeptideAtlas

More...
PeptideAtlasi
Q9Y6C5

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y6C5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
86649 [Q9Y6C5-1]
86650 [Q9Y6C5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y6C5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y6C5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000117425 Expressed in 87 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y6C5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y6C5 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114195, 5 interactors

Protein interaction database and analysis system

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IntActi
Q9Y6C5, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000361266

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini394 – 552SSDPROSITE-ProRule annotationAdd BLAST159

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the patched family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1935 Eukaryota
ENOG410XRKU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159901

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231331

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y6C5

KEGG Orthology (KO)

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KOi
K11101

Identification of Orthologs from Complete Genome Data

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OMAi
LHRRHCQ

Database of Orthologous Groups

More...
OrthoDBi
920897at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y6C5

TreeFam database of animal gene trees

More...
TreeFami
TF106489

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003392 Ptc/Disp
IPR000731 SSD
IPR004766 TM_rcpt_patched

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00918 2A060602, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50156 SSD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6C5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG
60 70 80 90 100
IQRHCGKVLF LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT
110 120 130 140 150
KEKLGEEAAY TSQMLIQTAR QEGENILTPE ALGLHLQAAL TASKVQVSLY
160 170 180 190 200
GKSWDLNKIC YKSGVPLIEN GMIERMIEKL FPCVILTPLD CFWEGAKLQG
210 220 230 240 250
GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK AQVGQAYVGR
260 270 280 290 300
PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG
310 320 330 340 350
GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST
360 370 380 390 400
VLQAWQRRFV QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG
410 420 430 440 450
GYLLMLAYAC VTMLRWDCAQ SQGSVGLAGV LLVALAVASG LGLCALLGIT
460 470 480 490 500
FNAATTQVLP FLALGIGVDD VFLLAHAFTE ALPGTPLQER MGECLQRTGT
510 520 530 540 550
SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV AVMLVFPAIL
560 570 580 590 600
SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV
610 620 630 640 650
QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE
660 670 680 690 700
ETRQKAACKS LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS
710 720 730 740 750
LYGATLVQDG LALTDVVPRG TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA
760 770 780 790 800
HSQRALFDLH QRFSSLKAVL PPPATQAPRT WLHYYRNWLQ GIQAAFDQDW
810 820 830 840 850
ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT TRKLVDREGL
860 870 880 890 900
IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP
910 920 930 940 950
PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP
960 970 980 990 1000
FLFWEQYLGL RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT
1010 1020 1030 1040 1050
VELFGIMGFL GIKLSAIPVV ILVASVGIGV EFTVHVALGF LTTQGSRNLR
1060 1070 1080 1090 1100
AAHALEHTFA PVTDGAISTL LGLLMLAGSH FDFIVRYFFA ALTVLTLLGL
1110 1120 1130 1140 1150
LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG LRWGASSSLP
1160 1170 1180 1190 1200
QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP

ATG
Length:1,203
Mass (Da):130,544
Last modified:January 24, 2001 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4FAB06999782C031
GO
Isoform 2 (identifier: Q9Y6C5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1143-1203: WGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG → PEEI

Show »
Length:1,146
Mass (Da):124,909
Checksum:iFC9A05E2E37C455F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y7J2H0Y7J2_HUMAN
Protein patched homolog 2
PTCH2
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2T → N in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti120R → L in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti175R → W in AAC79847 (PubMed:9811851).Curated1
Sequence conflicti175R → W in AAQ88919 (PubMed:12975309).Curated1
Sequence conflicti175R → W in AAQ89375 (PubMed:12975309).Curated1
Sequence conflicti753Q → R in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti787N → S in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti833P → L in AAD17260 (PubMed:10029063).Curated1
Sequence conflicti837S → G in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti846D → E in AAD25953 (PubMed:9931336).Curated1
Sequence conflicti897L → F in AAD17260 (PubMed:10029063).Curated1
Sequence conflicti1203G → GDYKDDDDK in AAQ88919 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018935346E → Q1 PublicationCorresponds to variant dbSNP:rs11573578Ensembl.1
Natural variantiVAR_018936493E → K1 PublicationCorresponds to variant dbSNP:rs11573581Ensembl.1
Natural variantiVAR_018937622H → Y1 PublicationCorresponds to variant dbSNP:rs11573586EnsemblClinVar.1
Natural variantiVAR_081391719R → Q in BCNS; unknown pathological significance; does not inhibit cell growth when overexpressed in vitro. 1 PublicationCorresponds to variant dbSNP:rs121434397EnsemblClinVar.1
Natural variantiVAR_018938988T → M1 PublicationCorresponds to variant dbSNP:rs11573590EnsemblClinVar.1
Natural variantiVAR_050466995V → M. Corresponds to variant dbSNP:rs11573591EnsemblClinVar.1
Natural variantiVAR_0189391019V → M1 PublicationCorresponds to variant dbSNP:rs11573591EnsemblClinVar.1
Natural variantiVAR_0189401121I → M1 PublicationCorresponds to variant dbSNP:rs11573598EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0045421143 – 1203WGASS…GPATG → PEEI in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF091501 mRNA Translation: AAC79847.1
AF087651 mRNA Translation: AAD25953.1
AF119569 mRNA Translation: AAD17260.1
AY358555 mRNA Translation: AAQ88919.1
AY359016 mRNA Translation: AAQ89375.1
AY438664 Genomic DNA Translation: AAR05447.1
AL136380 Genomic DNA No translation available.
AL592166 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS516.1 [Q9Y6C5-1]
CCDS53312.1 [Q9Y6C5-2]

NCBI Reference Sequences

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RefSeqi
NP_001159764.1, NM_001166292.1 [Q9Y6C5-2]
NP_003729.3, NM_003738.4 [Q9Y6C5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000372192; ENSP00000361266; ENSG00000117425 [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425 [Q9Y6C5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8643

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8643

UCSC genome browser

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UCSCi
uc010olf.3 human [Q9Y6C5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091501 mRNA Translation: AAC79847.1
AF087651 mRNA Translation: AAD25953.1
AF119569 mRNA Translation: AAD17260.1
AY358555 mRNA Translation: AAQ88919.1
AY359016 mRNA Translation: AAQ89375.1
AY438664 Genomic DNA Translation: AAR05447.1
AL136380 Genomic DNA No translation available.
AL592166 Genomic DNA No translation available.
CCDSiCCDS516.1 [Q9Y6C5-1]
CCDS53312.1 [Q9Y6C5-2]
RefSeqiNP_001159764.1, NM_001166292.1 [Q9Y6C5-2]
NP_003729.3, NM_003738.4 [Q9Y6C5-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi114195, 5 interactors
IntActiQ9Y6C5, 1 interactor
STRINGi9606.ENSP00000361266

Protein family/group databases

TCDBi2.A.6.6.14 the resistance-nodulation-cell division (rnd) superfamily

PTM databases

iPTMnetiQ9Y6C5
PhosphoSitePlusiQ9Y6C5

Polymorphism and mutation databases

BioMutaiPTCH2
DMDMi12643356

Proteomic databases

PaxDbiQ9Y6C5
PeptideAtlasiQ9Y6C5
PRIDEiQ9Y6C5
ProteomicsDBi86649 [Q9Y6C5-1]
86650 [Q9Y6C5-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8643

Genome annotation databases

EnsembliENST00000372192; ENSP00000361266; ENSG00000117425 [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425 [Q9Y6C5-2]
GeneIDi8643
KEGGihsa:8643
UCSCiuc010olf.3 human [Q9Y6C5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8643
DisGeNETi8643

GeneCards: human genes, protein and diseases

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GeneCardsi
PTCH2
HGNCiHGNC:9586 PTCH2
MalaCardsiPTCH2
MIMi109400 phenotype
155255 phenotype
603673 gene
605462 phenotype
neXtProtiNX_Q9Y6C5
OpenTargetsiENSG00000117425
Orphaneti377 Gorlin syndrome
141276 Tessier number 7 facial cleft
PharmGKBiPA33938

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1935 Eukaryota
ENOG410XRKU LUCA
GeneTreeiENSGT00940000159901
HOGENOMiHOG000231331
InParanoidiQ9Y6C5
KOiK11101
OMAiLHRRHCQ
OrthoDBi920897at2759
PhylomeDBiQ9Y6C5
TreeFamiTF106489

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
SignaLinkiQ9Y6C5
SIGNORiQ9Y6C5

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8643
PharosiQ9Y6C5

Protein Ontology

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PROi
PR:Q9Y6C5

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117425 Expressed in 87 organ(s), highest expression level in right testis
ExpressionAtlasiQ9Y6C5 baseline and differential
GenevisibleiQ9Y6C5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003392 Ptc/Disp
IPR000731 SSD
IPR004766 TM_rcpt_patched
PfamiView protein in Pfam
PF02460 Patched, 1 hit
PF12349 Sterol-sensing, 1 hit
TIGRFAMsiTIGR00918 2A060602, 1 hit
PROSITEiView protein in PROSITE
PS50156 SSD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPTC2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6C5
Secondary accession number(s): O95341
, O95856, Q53Z57, Q5QP87, Q6UX14
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: October 16, 2019
This is version 163 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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